A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv19e214



Internal ID20121442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46030708..46154212hg38UCSC Ensembl
chr1:46496380..46619884hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38123505
hg19123505
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3585928, esv3585927
SamplesHG02675, NA20792
Known GenesMAST2, PIK3R3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv19e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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